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Search results 1 to 100 out of 543 for Cacna1a

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0.049s
Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Protein Domain
Type: Family
Description: Ca2+ ions are unique in that they not only carry charge but they are also the most widely used of diffusible second messengers. Voltage-dependent Ca2+ channels (VDCC) are a family of molecules that allow cells to couple electrical activity to intracellular Ca2+ signalling. The opening and closing of these channels by depolarizing stimuli, such as action potentials, allows Ca2+ ions to enter neurons down a steep electrochemical gradient, producing transient intracellular Ca2+ signals. Many of the processes that occur in neurons, including transmitter release, gene transcription and metabolism are controlled by Ca2+ influx occurring simultaneously at different cellular locales. The pore is formed by the alpha-1 subunit which incorporates the conduction pore, the voltage sensor and gating apparatus, and the known sites of channel regulation by second messengers, drugs, and toxins []. The activity of this pore is modulated by four tightly-coupled subunits: an intracellular beta subunit; a transmembrane gamma subunit; and a disulphide-linked complex of alpha-2 and delta subunits, which are proteolytically cleaved from the same gene product. Properties of the protein including gating voltage-dependence, G protein modulation and kinase susceptibility can be influenced by these subunits.Voltage-gated calcium channels are classified as T, L, N, P, Q and R, and are distinguished by their sensitivity to pharmacological blocks, single-channel conductance kinetics, and voltage-dependence. On the basis of their voltage activation properties, the voltage-gated calcium classes can be further divided into two broad groups: the low (T-type) and high (L, N, P, Q and R-type) threshold-activated channels.The alpha-1 subunit forms the pore for the import of extracellular calcium ions and, though regulated by the other subunits, is primarily responsible for the pharmacological properties of the channel []. It shares sequence characteristics with all voltage-dependent cation channels, and exploits the same 6-helix bundle structural motif - in both sodium and calcium channels, this motif is repeated 4 times within the sequence to give a 24-helix bundle. Within each of these repeats, 5 of the transmembrane (TM) segments (S1, S2, S3, S5, S6) are hydrophobic, while the other (S4) is positively charged and serves as the voltage-sensor. Several genes encoding alpha-1 subunits have been identified and can be divided into three functionally distinct families based on sequence homology - Cav1, Cav2 and Cav3 []. The Cav1 family forms channels mediating L-type calcium currents, the Cav2 family mediates P/Q-, N-, and R-type calcium currents, while the Cav3 family mediates T-type calcium currents.Several genes encoding alpha-1 subunits have been identified, each forming a distinct electrophysiological channel. P- and Q-type channels are formed from alpha-1A subunits and function in transmitter release []. P-type channels are prevalent in cerebellar Purkinje cells, but are also expressed in many central and peripheral neurons, such as the spinal cord and visual cortex. By contrast, Q-type channels are found in cerebellar granule neurones and the hippocampus. Different mutations in the alpha-1A subunit can produce the following human diseases: episodic ataxia type-2familial hemiplegic migrainespinocerebellar ataxia type-6All 3 diseases result in cerebellar atrophy, but they differ in the extent and rate of progression of neuronal degeneration.
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Publication
First Author: Todorov B
Year: 2006
Journal: Genesis
Title: Conditional inactivation of the Cacna1a gene in transgenic mice.
Volume: 44
Issue: 12
Pages: 589-94
MGI Directed Relationship Property
Name: Non-mouse_Gene_Symbol
Value: CACNA1A
MGI Directed Relationship Property
Name: Non-mouse_Gene_Symbol
Value: CACNA1A
Publication
First Author: Li W
Year: 2012
Journal: PLoS One
Title: New ataxic tottering-6j mouse allele containing a Cacna1a gene mutation.
Volume: 7
Issue: 8
Pages: e44230
Publication
First Author: Du X
Year: 2013
Journal: Cell
Title: Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6.
Volume: 154
Issue: 1
Pages: 118-33
Publication
First Author: van den Maagdenberg AM
Year: 2004
Journal: Neuron
Title: A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression.
Volume: 41
Issue: 5
Pages: 701-10
Publication
First Author: Loonen ICM
Year: 2019
Journal: Brain
Title: Brainstem spreading depolarization and cortical dynamics during fatal seizures in Cacna1a S218L mice.
Volume: 142
Issue: 2
Pages: 412-425
Publication
First Author: Mark MD
Year: 2011
Journal: J Neurosci
Title: Delayed postnatal loss of P/Q-type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1a mutations.
Volume: 31
Issue: 11
Pages: 4311-26
Publication  
First Author: Hullugundi SK
Year: 2014
Journal: Neuroscience
Title: A hyperexcitability phenotype in mouse trigeminal sensory neurons expressing the R192Q Cacna1a missense mutation of familial hemiplegic migraine type-1.
Volume: 266
Pages: 244-54
Publication
First Author: Fletcher CF
Year: 2001
Journal: FASEB J
Title: Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity.
Volume: 15
Issue: 7
Pages: 1288-90
Publication
First Author: Saito H
Year: 2009
Journal: Biochem Biophys Res Commun
Title: Knockdown of Cav2.1 calcium channels is sufficient to induce neurological disorders observed in natural occurring Cacna1a mutants in mice.
Volume: 390
Issue: 3
Pages: 1029-33
Publication
First Author: Miao QL
Year: 2020
Journal: Brain
Title: Adult loss of Cacna1a in mice recapitulates childhood absence epilepsy by distinct thalamic bursting mechanisms.
Volume: 143
Issue: 1
Pages: 161-174
GXD Expression    
Probe: MGI:6168865
Assay Type: RNA in situ
Annotation Date: 2018-07-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689419
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:6189894
Age: embryonic day 11.5
Specimen Label: Table S2 - E11.5 - Cacna1a
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:6168865
Assay Type: RNA in situ
Annotation Date: 2018-07-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689421
Pattern: Not Specified
Stage: TS21
Assay Id: MGI:6189894
Age: embryonic day 13.5
Specimen Label: Table S2 - E13.5 - Cacna1a
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:6168865
Assay Type: RNA in situ
Annotation Date: 2018-07-25
Strength: Present
Sex: Male
Emaps: EMAPS:1689424
Pattern: Not Specified
Stage: TS24
Assay Id: MGI:6189894
Age: embryonic day 15.5
Specimen Label: Table S2 - E15.5 - Cacna1a
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:6168865
Assay Type: RNA in situ
Annotation Date: 2018-07-25
Strength: Present
Sex: Male
Emaps: EMAPS:1689426
Pattern: Not Specified
Stage: TS26
Assay Id: MGI:6189894
Age: embryonic day 18.5
Specimen Label: Table S2 - E18.5 - Cacna1a
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:6168865
Assay Type: RNA in situ
Annotation Date: 2018-07-25
Strength: Present
Sex: Male
Emaps: EMAPS:1689428
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6189894
Age: postnatal day 4
Specimen Label: Table S2 - P4 - Cacna1a
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:6168865
Assay Type: RNA in situ
Annotation Date: 2018-07-25
Strength: Present
Sex: Male
Emaps: EMAPS:1689428
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6189894
Age: postnatal day 14
Specimen Label: Table S2 - P14 - Cacna1a
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:6168865
Assay Type: RNA in situ
Annotation Date: 2018-07-25
Strength: Present
Sex: Male
Emaps: EMAPS:1689428
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6189894
Age: postnatal day 28
Specimen Label: Table S2 - P28 - Cacna1a
Detected: true
Specimen Num: 7
Publication
First Author: Fioretti B
Year: 2011
Journal: J Physiol
Title: Trigeminal ganglion neuron subtype-specific alterations of Ca(V)2.1 calcium current and excitability in a Cacna1a mouse model of migraine.
Volume: 589
Issue: Pt 23
Pages: 5879-95
Protein
Organism: Mus musculus
Length: 2368  
Fragment?: false
Protein
Organism: Mus musculus
Length: 2321  
Fragment?: false
Protein
Organism: Mus musculus
Length: 2321  
Fragment?: false
Protein
Organism: Mus musculus
Length: 2321  
Fragment?: true
Protein
Organism: Mus musculus
Length: 2365  
Fragment?: false
Protein
Organism: Mus musculus
Length: 2368  
Fragment?: false
Protein
Organism: Mus musculus
Length: 2457  
Fragment?: false
Protein
Organism: Mus musculus
Length: 2327  
Fragment?: false
Publication
First Author: Catterall WA
Year: 2003
Journal: Pharmacol Rev
Title: International Union of Pharmacology. XL. Compendium of voltage-gated ion channels: calcium channels.
Volume: 55
Issue: 4
Pages: 579-81
Publication  
First Author: Catterall WA
Year: 2000
Journal: Annu Rev Cell Dev Biol
Title: Structure and regulation of voltage-gated Ca2+ channels.
Volume: 16
Pages: 521-55
Publication
First Author: Ertel EA
Year: 2000
Journal: Neuron
Title: Nomenclature of voltage-gated calcium channels.
Volume: 25
Issue: 3
Pages: 533-5
Publication
First Author: Diriong S
Year: 1995
Journal: Genomics
Title: Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits.
Volume: 30
Issue: 3
Pages: 605-9
Publication
First Author: Kaja S
Year: 2005
Journal: Neuroscience
Title: Gene dosage-dependent transmitter release changes at neuromuscular synapses of CACNA1A R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness.
Volume: 135
Issue: 1
Pages: 81-95
Publication
First Author: Maejima T
Year: 2013
Journal: J Neurosci
Title: Postnatal loss of P/Q-type channels confined to rhombic-lip-derived neurons alters synaptic transmission at the parallel fiber to purkinje cell synapse and replicates genomic Cacna1a mutation phenotype of ataxia and seizures in mice.
Volume: 33
Issue: 12
Pages: 5162-74
Allele
Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; targeted mutation 3.1, Tsutomu Tanabe
Allele Type: Targeted
Attribute String: Humanized sequence
Publication      
First Author: Harris BS
Year: 2013
Journal: MGI Direct Data Submission
Title: Small roller: A new recessive neurological mutation that maps to Chromosome 8
Publication
First Author: Jansen NA
Year: 2019
Journal: J Neurosci
Title: Apnea Associated with Brainstem Seizures in Cacna1a S218L Mice Is Caused by Medullary Spreading Depolarization.
Volume: 39
Issue: 48
Pages: 9633-9644
Publication      
First Author: Keef J
Year: 2018
Journal: MGI Direct Data Submission
Title: Mutagenetix entry for totter.
Publication
First Author: Plomp JJ
Year: 2009
Journal: Cerebellum
Title: The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.
Volume: 8
Issue: 3
Pages: 222-30
Publication  
First Author: Salvi J
Year: 2014
Journal: Neurobiol Dis
Title: RNAi silencing of P/Q-type calcium channels in Purkinje neurons of adult mouse leads to episodic ataxia type 2.
Volume: 68
Pages: 47-56
Publication
First Author: Fureman BE
Year: 2005
Journal: Neurobiol Dis
Title: Noradrenergic blockade prevents attacks in a model of episodic dysfunction caused by a channelopathy.
Volume: 20
Issue: 2
Pages: 227-32
Publication
First Author: Watase K
Year: 2008
Journal: Proc Natl Acad Sci U S A
Title: Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels.
Volume: 105
Issue: 33
Pages: 11987-92
Publication
First Author: Du X
Year: 2019
Journal: Neuron
Title: α1ACT Is Essential for Survival and Early Cerebellar Programming in a Critical Neonatal Window.
Volume: 102
Issue: 4
Pages: 770-785.e7
Publication
First Author: Saegusa H
Year: 2007
Journal: Mol Cell Neurosci
Title: Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells.
Volume: 34
Issue: 2
Pages: 261-70
Publication
First Author: Cramer SW
Year: 2015
Journal: J Neurosci
Title: Abnormal excitability and episodic low-frequency oscillations in the cerebral cortex of the tottering mouse.
Volume: 35
Issue: 14
Pages: 5664-79
Publication
First Author: Kaja S
Year: 2007
Journal: Neuroscience
Title: Characterization of acetylcholine release and the compensatory contribution of non-Ca(v)2.1 channels at motor nerve terminals of leaner Ca(v)2.1-mutant mice.
Volume: 144
Issue: 4
Pages: 1278-87
Publication
First Author: Alonso I
Year: 2008
Journal: Neurobiol Aging
Title: Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant.
Volume: 29
Issue: 11
Pages: 1733-43
Publication
First Author: Ovsepian SV
Year: 2008
Journal: Eur J Neurosci
Title: The leaner P/Q-type calcium channel mutation renders cerebellar Purkinje neurons hyper-excitable and eliminates Ca2+-Na+ spike bursts.
Volume: 27
Issue: 1
Pages: 93-103
Publication
First Author: Kaja S
Year: 2007
Journal: Eur J Neurosci
Title: Severely impaired neuromuscular synaptic transmission causes muscle weakness in the Cacna1a-mutant mouse rolling Nagoya.
Volume: 25
Issue: 7
Pages: 2009-20
Publication
First Author: Takahashi E
Year: 2010
Journal: Behav Brain Res
Title: Neonatal motor functions in Cacna1a-mutant rolling Nagoya mice.
Volume: 207
Issue: 2
Pages: 273-9
Publication  
First Author: Rose SJ
Year: 2014
Journal: Exp Neurol
Title: The first knockin mouse model of episodic ataxia type 2.
Volume: 261
Pages: 553-62
Publication
First Author: Bohne P
Year: 2021
Journal: Hum Mol Genet
Title: Cognitive deficits in episodic ataxia type 2 mouse models.
Volume: 30
Issue: 19
Pages: 1811-1832
Publication
First Author: Todorov B
Year: 2012
Journal: Cerebellum
Title: Purkinje cell-specific ablation of Cav2.1 channels is sufficient to cause cerebellar ataxia in mice.
Volume: 11
Issue: 1
Pages: 246-58
Publication
First Author: Eikermann-Haerter K
Year: 2009
Journal: J Clin Invest
Title: Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1.
Volume: 119
Issue: 1
Pages: 99-109
Publication
First Author: Zwingman TA
Year: 2001
Journal: J Neurosci
Title: Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a.
Volume: 21
Issue: 4
Pages: 1169-78
Publication
First Author: Stahl JS
Year: 2004
Journal: J Neurophysiol
Title: Eye movements of the murine P/Q calcium channel mutant rocker, and the impact of aging.
Volume: 91
Issue: 5
Pages: 2066-78
Publication  
First Author: Kaja S
Year: 2015
Journal: Neuroscience
Title: Differential cerebellar GABAA receptor expression in mice with mutations in CaV2.1 (P/Q-type) calcium channels.
Volume: 304
Pages: 198-208
Publication
First Author: Eikermann-Haerter K
Year: 2011
Journal: J Neurosci
Title: Enhanced subcortical spreading depression in familial hemiplegic migraine type 1 mutant mice.
Volume: 31
Issue: 15
Pages: 5755-63
Publication
First Author: van den Maagdenberg AM
Year: 2010
Journal: Ann Neurol
Title: High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice.
Volume: 67
Issue: 1
Pages: 85-98
Publication
First Author: Dilekoz E
Year: 2015
Journal: J Neurosci
Title: Migraine mutations impair hippocampal learning despite enhanced long-term potentiation.
Volume: 35
Issue: 8
Pages: 3397-402
Publication    
First Author: Terpollili NA
Year: 2022
Journal: Elife
Title: CaV2.1 channel mutations causing familial hemiplegic migraine type 1 increase the susceptibility for cortical spreading depolarizations and seizures and worsen outcome after experimental traumatic brain injury.
Volume: 11
Publication
First Author: Kim TY
Year: 2016
Journal: Exp Anim
Title: Protein expression pattern in cerebellum of Cav2.1 mutant, tottering-6j mice.
Volume: 65
Issue: 3
Pages: 207-14
Publication
First Author: Di Guilmi MN
Year: 2014
Journal: J Neurosci
Title: Synaptic gain-of-function effects of mutant Cav2.1 channels in a mouse model of familial hemiplegic migraine are due to increased basal [Ca2+]i.
Volume: 34
Issue: 21
Pages: 7047-58
Publication
First Author: Gao Z
Year: 2012
Journal: J Neurosci
Title: Cerebellar ataxia by enhanced Ca(V)2.1 currents is alleviated by Ca2+-dependent K+-channel activators in Cacna1a(S218L) mutant mice.
Volume: 32
Issue: 44
Pages: 15533-46
Publication
First Author: Miyoshi C
Year: 2019
Journal: Proc Natl Acad Sci U S A
Title: Methodology and theoretical basis of forward genetic screening for sleep/wakefulness in mice.
Volume: 116
Issue: 32
Pages: 16062-16067
Publication
First Author: Glasscock E
Year: 2007
Journal: Nat Neurosci
Title: Masking epilepsy by combining two epilepsy genes.
Volume: 10
Issue: 12
Pages: 1554-8
Publication
First Author: Stahl JS
Year: 2013
Journal: PLoS One
Title: 4-aminopyridine does not enhance flocculus function in tottering, a mouse model of vestibulocerebellar dysfunction and ataxia.
Volume: 8
Issue: 2
Pages: e57895
Publication  
First Author: Park J
Year: 2014
Journal: Neurobiol Dis
Title: Differential trigeminovascular nociceptive responses in the thalamus in the familial hemiplegic migraine 1 knock-in mouse: a Fos protein study.
Volume: 64
Pages: 1-7
Publication  
First Author: Inchauspe CG
Year: 2015
Journal: Hear Res
Title: Familial hemiplegic migraine type-1 mutated cav2.1 calcium channels alter inhibitory and excitatory synaptic transmission in the lateral superior olive of mice.
Volume: 319
Pages: 56-68
Publication
First Author: Bomben VC
Year: 2016
Journal: J Neurosci
Title: Isolated P/Q Calcium Channel Deletion in Layer VI Corticothalamic Neurons Generates Absence Epilepsy.
Volume: 36
Issue: 2
Pages: 405-18
Publication
First Author: Tsunemi T
Year: 2002
Journal: J Biol Chem
Title: Novel Cav2.1 splice variants isolated from Purkinje cells do not generate P-type Ca2+ current.
Volume: 277
Issue: 9
Pages: 7214-21
Publication
First Author: Kaja S
Year: 2006
Journal: J Neurophysiol
Title: Compensatory contribution of Cav2.3 channels to acetylcholine release at the neuromuscular junction of tottering mice.
Volume: 95
Issue: 4
Pages: 2698-704
Publication
First Author: Xie G
Year: 2007
Journal: Genes Brain Behav
Title: Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A.
Volume: 6
Issue: 8
Pages: 717-27
Publication
First Author: Yoshimoto T
Year: 2014
Journal: J Vet Med Sci
Title: Rolling Nagoya mouse strain (PROD-rol/rol) with classic piebald mutation.
Volume: 76
Issue: 8
Pages: 1093-8
Publication
First Author: Miki T
Year: 2008
Journal: Neuroscience
Title: Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies.
Volume: 155
Issue: 1
Pages: 31-44
Publication
First Author: Koch H
Year: 2013
Journal: J Neurosci
Title: Stable respiratory activity requires both P/Q-type and N-type voltage-gated calcium channels.
Volume: 33
Issue: 8
Pages: 3633-45
Publication
First Author: Mallmann RT
Year: 2013
Journal: PLoS One
Title: Ablation of Ca(V)2.1 voltage-gated Ca²⁺ channels in mouse forebrain generates multiple cognitive impairments.
Volume: 8
Issue: 10
Pages: e78598
Publication
First Author: Hullugundi SK
Year: 2013
Journal: PLoS One
Title: The mechanism of functional up-regulation of P2X3 receptors of trigeminal sensory neurons in a genetic mouse model of familial hemiplegic migraine type 1 (FHM-1).
Volume: 8
Issue: 4
Pages: e60677
Publication
First Author: Yamashiro K
Year: 2020
Journal: iScience
Title: AUTS2 Governs Cerebellar Development, Purkinje Cell Maturation, Motor Function and Social Communication.
Volume: 23
Issue: 12
Pages: 101820
Publication
First Author: Rossignol E
Year: 2013
Journal: Ann Neurol
Title: CaV 2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures.
Volume: 74
Issue: 2
Pages: 209-22
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus